| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
GWASCAT_DG |
28196072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Androgenetic, 1 |
Androgenetic Alopecia |
GWASCAT_DG |
29146897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Androgenetic, 2 |
Androgenetic Alopecia |
GWASCAT_DG |
29146897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Androgenetic, 3 |
Androgenetic Alopecia |
GWASCAT_DG |
29146897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Male Pattern |
Alopecia, Male Pattern |
GWASDB_DG |
22693459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Male Pattern |
Alopecia, Male Pattern |
GWASCAT_DG |
29146897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Androgenetic Alopecia |
Androgenetic Alopecia |
GWASCAT_DG |
29146897 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Aphasia |
Aphasia |
Pubtator |
35041927 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy |
Atrophy |
Pubtator |
24105372 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
36750796 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
BEFREE |
19160128 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
32872024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
BEFREE |
10439959, 12805098, 16221952, 18512229, 20528889, 21796728, 23416624, 24105372, 27146843, 27160703, 29510240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar hypoplasia |
Pubtator |
24105372, 24637888, 27160703, 32872024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
27146843 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
11595131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
BEFREE |
29960046 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
Pubtator |
29960046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression Postpartum |
Major depressive disorder |
Pubtator |
33958329 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29960046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
12805098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
29960046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
11172594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
23552953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gross motor development delay |
Developmental delay |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperkinesis |
Hyperkinesia |
Pubtator |
24105372 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
16221952, 29030432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility Male |
Male infertility |
Pubtator |
39267058 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
10439959, 10818214, 11017088, 16158428, 16221952, 17845870, 18261018, 18512229, 19160128, 20602808, 21796728, 24105372, 24637888, 27146843, 27160703, 27742778, 29510240 View all (2 more) |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
LHGDN |
17845870 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
17845870, 20602808, 24105372, 24637888, 25649377, 27160703, 32872024 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
25170626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
BEFREE |
11172594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
10439959, 10818214, 16158428, 16221952, 17845870, 18512229, 19160128, 20602808, 21796728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
BEFREE |
10818214, 12805098, 14735583, 16158428, 16221952, 17941886, 18261018, 20528889, 23416624, 25170626, 9582072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
LHGDN |
16221952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
CTD_human_DG |
17941886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked 1 |
Mental Retardation, X-Linked |
BEFREE |
10818214, 16221952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance |
ORPHANET_DG |
20528889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance |
GENOMICS_ENGLAND_DG |
29510240, 9582072 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nystagmus |
Nystagmus |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Otitis Media |
Otitis media |
BEFREE |
29960046 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
25170626 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32203070 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
29510240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Delay |
Speech Delay |
BEFREE |
18512229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
16371738 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
BEFREE |
18512229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
Pubtator |
24105372 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tracheomalacia |
Tracheomalacia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urogenital Abnormalities |
Urogenital Abnormalities |
BEFREE |
29960046 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urogenital Abnormalities |
Urogenital abnormalities |
Pubtator |
29960046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked intellectual disability-cerebellar hypoplasia syndrome |
Intellectual Disability-Cerebellar Hypoplasia Syndrome, X-Linked |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |